Product Details

SNP ID
rs139533286
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:16129378 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCTGATGGAGGTGGAGGTGGAGG[C/G]GAAAGCCAACGGCGAGGACTGCCTC
Phenotype
MIM: 610082
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MYLIP PubMed Links

Gene Details

Gene
MYLIP
Gene Name
myosin regulatory light chain interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013262.3 293 Missense Mutation GCG,GGG A19G NP_037394.2
XM_005249032.2 293 Missense Mutation GCG,GGG A19G XP_005249089.1
XM_005249033.2 293 UTR 5 XP_005249090.1
XM_017010789.1 293 Missense Mutation GCG,GGG A19G XP_016866278.1

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